Saleh Umaira, Lim Liang Hooi, Ismail Ihfaz, Abd Wahab Nasser
Department of Neurosurgery, Hospital Pulau Pinang, Georgetown, Pulau Pinang, Malaysia.
J Neurosurg Case Lessons. 2021 Feb 1;1(5):CASE2025. doi: 10.3171/CASE2025.
Craniopharyngiomas and germ cell tumors (GCTs) are both rare intracranial tumors commonly present in childhood or middle age. They share similar clinical and radiological features. GCTs commonly give rise to tumor markers in the cerebrospinal fluid, hence guiding the treatment plan.
This article reports the case of a 5-year-old boy with a large sellar and suprasellar mass with obstructive hydrocephalus. Laboratory studies showed increased beta-human chorionic gonadotrophin (β-hCG) levels in the cystic fluid, suggestive of choriocarcinoma. He underwent 3 cycles of chemotherapy but showed a poor response. Further aspiration followed by tumor debulking was performed, and histopathological examination revealed craniopharyngioma.
This case report indicates that β-hCG, commonly regarded as a specific tumor marker for choriocarcinoma, is detectable in other forms of suprasellar tumors. The authors highlight clinical and radiological features of suprasellar tumors that can be misdiagnosed as intracranial GCTs. The relevance of tumor markers and indications for histopathological confirmation are discussed.
颅咽管瘤和生殖细胞肿瘤（GCTs）均为罕见的颅内肿瘤，常见于儿童期或中年。它们具有相似的临床和影像学特征。GCTs通常会在脑脊液中产生肿瘤标志物，从而指导治疗方案。
本文报道了一名5岁男孩的病例，其鞍区和鞍上有巨大肿块并伴有梗阻性脑积水。实验室检查显示囊液中β-人绒毛膜促性腺激素（β-hCG）水平升高，提示绒毛膜癌。他接受了3个周期的化疗，但反应不佳。随后进行了进一步穿刺及肿瘤减瘤手术，组织病理学检查显示为颅咽管瘤。
本病例报告表明，通常被视为绒毛膜癌特异性肿瘤标志物的β-hCG在其他形式的鞍上肿瘤中也可检测到。作者强调了可能被误诊为颅内GCTs的鞍上肿瘤的临床和影像学特征。讨论了肿瘤标志物的相关性以及组织病理学确诊的指征。
